|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
|
rs750046020
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
|
21659346 |
2011 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
|
rs750046020
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
|
19036112 |
2009 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
|
18422784 |
2008 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
|
18240171 |
2008 |
|
rs587778514
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.
|
11972523 |
2002 |
|
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
|
rs587778514
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
|
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
|
10971406 |
2000 |
|
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Thrombocytopenia in c-mpl-deficient mice.
|
8073287 |
1994 |
|
rs1343123940
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation.
|
31049728 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients.
|
31123683 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy.
|
30971335 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV patients (P = .019 and borderline significant at P = .055, respectively), while in ET patients leukocytes > 9.2 × 10<sup>9</sup>/L (P < .001) and age at diagnosis of > 55 years were statistically significantly different (P = .002).
|
30301673 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |
|
rs77375493
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F.
|
30471421 |
2019 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |